Familial cases of AML/MDS cases have been extensively investigated, revealing both inherited and somatic mutations in DDX41. DDX41 is one of the most highly mutated genes in familial AML/MDS; other genes include tet methylcytosine dioxygenase 2 (TET2), RUNX1, GATA2 and the tumor suppressor gene TP53, which is mutated in many cancers (100–104). This evidence concerns the gene DDX41 and myelodysplastic syndrome.